Results 131 to 140 of about 10,092 (250)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

open access: yesClinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen   +9 more
wiley   +1 more source

Distinct Neural Signatures of Novel Word–Referent Mapping in Monolingual and Bilingual Toddlers

open access: yesDevelopmental Science, Volume 29, Issue 5, September 2026.
ABSTRACT Evidence suggests that bilingualism impacts children's lexical and brain development. Yet, the development of the brain's language network in early childhood–a period marked by rapid vocabulary growth–remains poorly understood, particularly with respect to differences between bilingual and monolingual children. This study used eye tracking and
Maria M. Arredondo, Drew Weatherhead
wiley   +1 more source

Tissue rigidity phase transition shapes morphogen gradients. [PDF]

open access: yesNat Cell Biol
Autorino C   +10 more
europepmc   +1 more source

Ophthalmological outcomes, visual perception, fine motor precision, and visual‐motor integration in children born very preterm

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1228-1236, September 2026.
Children born very preterm with poorer ophthalmological function at 2 years 6 months, 6 years 6 months, and 12 years showed poorer visuo‐perceptual, visual‐motor, and fine motor skills at 12 years, emphasizing the role of visual input in visual‐motor development.
Martin Johansson   +5 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy